Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003130026 | SCV003816294 | uncertain significance | not provided | 2021-08-24 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000723348 | SCV000854747 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2018-08-08 | no assertion criteria provided | clinical testing | |
Clinical Laboratory Sciences Program |
RCV000723348 | SCV003927893 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2023-04-01 | no assertion criteria provided | clinical testing |